Klippel-Trenaunay-Weber syndrome

Klippel Trenaunay-Weber syndrome or KTS is a medical condition in which blood vessels and/or lymph vessels fail to form properly.

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Terminology

There exists some controversy over the terminology.

• The condition was first described by French physicians Maurice Klippel and Paul Trénaunay in 1900^[1][2] and termed naevus vasculosus osteohypertrophicus.

• Frederick Parkes Weber described cases in 1907 and 1918 that were similar but not identical to those described by Klippel and Trenaunay. ^[3][4]

• In 1965, Lindenauer proposed that when arteriovenous fistula is present, the term "Parkes Weber syndrome" be used instead.^[5] More recently, Cohen has supported separating keeping the terms distinct.^[6]

• ICD-10 currently uses the term "Klippel-Trénaunay-Weber syndrome".

Symptoms and diagnosis

Although the cause and processes surrounding Klippel-Trenaunay Syndrome (KTS) are poorly understood, the birth defect is diagnosed by the presence of a combination of these symptoms (often on approximately ¼th of the body, though some cases may present more of less affected tissue):

• A distinctive port-wine stain with sharp borders
• Varicose veins
• Hypertrophy of bony and soft tissues, that may lead to local gigantism or shrinking.
• An improperly developed lymph system

Note: In some cases, patients may present without the port-wine stain. Such cases are very rare and may be classified as atypical Klippel-Trenaunay Syndrome.

Note that KTS can either affect blood vessels, lymph vessels, or both. Most commonly is a mixture of the two. Those with veinous involvements are subject to an overall harder lifestyle due to the increased pain and complications.

The birth defect affects men and women equally, and is not limited to any racial group. It not certain if it is genetic in nature, although testing is ongoing. ^[7] There is some evidence that it may be associated with a translocation at t(8;14)(q22.3;q13).^[8]

Treatment

KTS is a complex syndrome, and no single treatment is applicable for everyone. The best method for deciding on a treatment is to talk to your doctor

Debulking has been the most widely used treatment for the syndrome, and has been used for decades. Progress has been made in this method over the course of the past couple decades, but it is still an invasive procedure, and has many complications. As other choices now exist for KTS patients, this method is generally reserved as a last resort.

Mayo Clinic has reported the largest experience in managing KTS with major surgery. In 39 years at Mayo clinic the surgery teem evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery. The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90 % success. All the procedures demonstrated high recurrence rate in the follow up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches needs to be developed for offering a better quality of life in these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.

Sclerotherapy is a treatment for specific veins and vascular malformations in the affected area. It involves the injection of a chemical into the abnormal veins to cause thickening and obstruction of the targeted vessels. Such treatment may allow normal blood flow to resume. It is a non-surgical medical procedure and is not nearly as invasive as debulking. Ultrasound guided foam sclerotherapy is the state of the art new treatment which could potentially close many large vascular malformations. ^[9][10][11] Debulking operations can result in major deformities and have a high potential for recurrence and nerve injuries.

Compression therapies are finding more use as of the last ten years. The greatest issue with KTS syndrome is that the blood flow and/or lymph flow may be impeded, and will pool in the affected area. This can cause pain, swelling, inflammations, and in some cases, even ulceration and infection. Among older children and adults, compression garments can be used to alleviate almost all of these, and when combined with elevation of the affected area and proper management, can result in a comfortable lifestyle for the patient without any surgery. Compression garments are also used lately after a debulking procedure to maintain the results of the procedure. For early treatment of infants and toddlers with KTS, custom compression garments are impractical because of the rate of growth. When children may benefit from compression therapies, wraps and lymphatic massage may be used. While compression garments or therapy are not appropriate for everyone, they are relatively cheap (compared to surgery), and have few side-effects. Possible side-effects include a slight risk that the fluids may simply be displaced to an undesirable location (e.g, the groin), or that the compression therapy itself further impedes circulation to the affected extremities.

Other treatments are also available, including other surgical procedures and massage therapy. At present, however, many of the symptoms may be treated, but there is no cure for for Klippel-Trenaunay Syndrome.

Notable cases

• Casey Martin
• Scott Hudson

References